Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Chen, Jia; Li, Hong; Guo, Sicheng; Yang, Zhe; Sun, Shaoping; Zeng, JunJie; Gou, Hongjuan; Chen, Yechang; Wang, Feng; Lin, Yanping; Huang, Kun; Yue, Hong; Ma, Yuting; Lin, Yubi

Chen, Jia; Li, Hong; Guo, Sicheng; Yang, Zhe; Sun, Shaoping; Zeng, JunJie; Gou, Hongjuan; Chen, Yechang; Wang, Feng; Lin, Yanping; Huang, Kun; Yue, Hong; Ma, Yuting; Lin, Yubi.

Afiliación

Chen J; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Li H; The Second Department of Cardiology, Department of Obstetrics and Gynecology, The Second People's Hospital of Guangdong Province, Guangzhou, 510310, Guangdong Province, China.
Guo S; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Yang Z; The University of Hong Kong-Shenzhen Hospital, Shenzhen, 518048, Guangdong Province, China.
Sun S; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Zeng J; College of Plant Protection, Hunan Agricultural University, Changsha, 410128, Hunan Province, China.
Gou H; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Chen Y; Department of Endocrinology and Metabolism, Zhuhai Hospital Affiliated to Jinan University, Zhuhai, 519000, Guangdong Province, China.
Wang F; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Lin Y; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Huang K; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Yue H; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Ma Y; Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Geriatrics Institute, Guangdong Cardiovascular Institute, Guangzhou, 510080, Guangdong Province, China.
Lin Y; The Second Department of Cardiology, Department of Obstetrics and Gynecology, The Second People's Hospital of Guangdong Province, Guangzhou, 510310, Guangdong Province, China.

Orphanet J Rare Dis ; 17(1): 394, 2022 10 27.

Article en En | MEDLINE | ID: mdl-36303204

Asunto(s)

Síndrome de Brugada; Síndrome de QT Prolongado; Humanos; Canal de Potasio KCNQ1/genética; Síndrome de Brugada/genética; Secuenciación del Exoma; Canal de Potasio ERG1/genética; Canal de Sodio Activado por Voltaje NAV1.5/genética; Síndrome de QT Prolongado/genética; Mutación/genética

Palabras clave

Arrhythmia; Brugada syndrome; Long QT syndrome; Natriuretic peptide precursor A; Nebulette

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de QT Prolongado / Síndrome de Brugada Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google